| Metadata | |
|---|---|
| ID | DOID:0110679 |
| Name | congenital myasthenic syndrome 4C |
| Definition | A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13. https://www.ncbi.nlm.nih.gov/pubmed/8957026, https://www.ncbi.nlm.nih.gov/pubmed/25792100 |
| Xrefs | |
| Synonyms |
CMS Id [EXACT] CMS1D [EXACT] CMS4C [EXACT] congenital myasthenic syndrome 4C associated with acetylcholine receptor deficiency [EXACT] congenital myasthenic syndrome type Id [EXACT] familial infantile myasthenia 1 [EXACT] FIM1 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance disease has basis in some Abnormality of prenatal development or birth has symptom some muscle weakness |